"Invitae"[submitter] AND "PIEZO2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1314136	NM_001378183.1(PIEZO2):c.8581A>G (p.Arg2861Gly)	PIEZO2 (R2748G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560382	NM_001378183.1(PIEZO2):c.8535A>G (p.Lys2845=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related condition +1 more	GLikely benign
Select item 2968824	NM_001378183.1(PIEZO2):c.8527T>C (p.Tyr2843His)	PIEZO2 (Y2755H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748790	NM_001378183.1(PIEZO2):c.8505A>G (p.Glu2835=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784545	NM_001378183.1(PIEZO2):c.8456G>A (p.Arg2819Gln)	PIEZO2 (R2706Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1587347	NM_001378183.1(PIEZO2):c.8412G>A (p.Gly2804=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 973945	NM_001378183.1(PIEZO2):c.8395C>G (p.Arg2799Gly)	PIEZO2 (R2686G +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2856755	NM_001378183.1(PIEZO2):c.8386A>C (p.Lys2796Gln)	PIEZO2 (K2708Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018626	NM_001378183.1(PIEZO2):c.8358A>G (p.Leu2786=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725646	NM_001378183.1(PIEZO2):c.8346-10T>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988738	NM_001378183.1(PIEZO2):c.8345+17C>A	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770802	NM_001378183.1(PIEZO2):c.8340C>T (p.Gly2780=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1377965	NM_001378183.1(PIEZO2):c.8300A>G (p.Asn2767Ser)	PIEZO2 (N2654S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727691	NM_001378183.1(PIEZO2):c.8268G>A (p.Pro2756=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3020803	NM_001378183.1(PIEZO2):c.8266C>G (p.Pro2756Ala)	PIEZO2 (P2668A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690795	NM_001378183.1(PIEZO2):c.8260T>C (p.Tyr2754His)	PIEZO2 (Y2641H +1 more)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 261531	NM_001378183.1(PIEZO2):c.8250A>T (p.Gly2750=)	PIEZO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1186056	NM_001378183.1(PIEZO2):c.8181T>C (p.Ile2727=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3023742	NM_001378183.1(PIEZO2):c.8161+16A>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2024387	NM_001378183.1(PIEZO2):c.8161+12A>G	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 792151	NM_001378183.1(PIEZO2):c.8157A>G (p.Leu2719=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722864	NM_001378183.1(PIEZO2):c.8143A>G (p.Ile2715Val)	PIEZO2 (I2602V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2811828	NM_001378183.1(PIEZO2):c.8081+17C>T	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995666	NM_001378183.1(PIEZO2):c.8073A>C (p.Lys2691Asn)	PIEZO2 (K2691N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1136373	NM_001378183.1(PIEZO2):c.8063A>G (p.Glu2688Gly)	PIEZO2 (E2575G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1955022	NM_001378183.1(PIEZO2):c.8057G>A (p.Ser2686Asn)	PIEZO2 (S2598N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718288	NM_001378183.1(PIEZO2):c.7977G>A (p.Ser2659=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related condition +1 more	GBenign/Likely benign
Select item 445793	NM_001378183.1(PIEZO2):c.7969G>A (p.Ala2657Thr)	PIEZO2 (A2544T +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 781355	NM_001378183.1(PIEZO2):c.7953-9dup	PIEZO2	Duplication (intron variant)	not provided	GBenign
Select item 720774	NM_001378183.1(PIEZO2):c.7953-8C>T	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2158652	NM_001378183.1(PIEZO2):c.7953-10_7953-9del	PIEZO2	Deletion (intron variant)	not provided	GBenign
Select item 1262523	NM_001378183.1(PIEZO2):c.7953-9del	PIEZO2	Deletion (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch +5 more	GBenign
Select item 733397	NM_001378183.1(PIEZO2):c.7808A>G (p.Glu2603Gly)	PIEZO2 (E2490G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1033997	NM_001378183.1(PIEZO2):c.7807G>T (p.Glu2603Ter)	PIEZO2 (E2490* +1 more)	Single nucleotide variant (nonsense)	Gordon syndrome +1 more	GPathogenic
Select item 1363435	NM_001378183.1(PIEZO2):c.7758A>G (p.Ile2586Met)	PIEZO2 (I2586M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261530	NM_001378183.1(PIEZO2):c.7726G>A (p.Val2576Ile)	PIEZO2 (V2463I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 798584	NM_001378183.1(PIEZO2):c.7707C>A (p.Ala2569=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1324900	NM_001378183.1(PIEZO2):c.7686+1G>C	PIEZO2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 758734	NM_001378183.1(PIEZO2):c.7653C>T (p.Asp2551=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715822	NM_001378183.1(PIEZO2):c.7648C>T (p.Leu2550=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2315304	NM_001378183.1(PIEZO2):c.7567G>A (p.Val2523Ile)	PIEZO2 (V2410I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 717042	NM_001378183.1(PIEZO2):c.7566C>T (p.Ile2522=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 748461	NM_001378183.1(PIEZO2):c.7359C>T (p.Leu2453=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728582	NM_001378183.1(PIEZO2):c.7350-3C>A	PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1909526	NM_001378183.1(PIEZO2):c.7350-13T>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261528	NM_001378183.1(PIEZO2):c.7349+8G>A	PIEZO2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 261527	NM_001378183.1(PIEZO2):c.7349+7C>T	PIEZO2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch +5 more	GBenign
Select item 1389710	NM_001378183.1(PIEZO2):c.7327G>A (p.Val2443Ile)	PIEZO2 (V2330I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775114	NM_001378183.1(PIEZO2):c.7326C>T (p.Tyr2442=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2166134	NM_001378183.1(PIEZO2):c.7317C>T (p.Ser2439=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 720892	NM_001378183.1(PIEZO2):c.7286C>T (p.Thr2429Met)	PIEZO2 (T2316M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 261526	NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=)	PIEZO2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, with impaired proprioception and touch +5 more	GBenign
Select item 762936	NM_001378183.1(PIEZO2):c.7209G>C (p.Leu2403=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417022	NM_001378183.1(PIEZO2):c.7095C>T (p.Leu2365=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158501	NM_001378183.1(PIEZO2):c.7039T>C (p.Leu2347=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 261525	NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=)	PIEZO2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 740827	NM_001378183.1(PIEZO2):c.7029G>A (p.Pro2343=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964412	NM_001378183.1(PIEZO2):c.6975+9G>A	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969831	NM_001378183.1(PIEZO2):c.6975+6T>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 743972	NM_001378183.1(PIEZO2):c.6951T>C (p.Ile2317=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723446	NM_001378183.1(PIEZO2):c.6945C>A (p.Ile2315=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2898194	NM_001378183.1(PIEZO2):c.6895G>A (p.Val2299Met)	PIEZO2 (V2299M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752681	NM_001378183.1(PIEZO2):c.6894C>T (p.Ala2298=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 261524	NM_001378183.1(PIEZO2):c.6891C>T (p.Ser2297=)	PIEZO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1964215	NM_001378183.1(PIEZO2):c.6877C>T (p.His2293Tyr)	PIEZO2 (H2205Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293871	NM_001378183.1(PIEZO2):c.6831G>A (p.Thr2277=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1081842	NM_001378183.1(PIEZO2):c.6793C>A (p.His2265Asn)	PIEZO2 (H2152N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2434830	NM_001378183.1(PIEZO2):c.6776T>C (p.Met2259Thr)	PIEZO2 (M2146T +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 730750	NM_001378183.1(PIEZO2):c.6705C>T (p.Ser2235=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1898132	NM_001378183.1(PIEZO2):c.6694+10G>A	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 793790	NM_001378183.1(PIEZO2):c.6694+9C>T	PIEZO2	Single nucleotide variant (intron variant)	PIEZO2-related condition +1 more	GLikely benign
Select item 712133	NM_001378183.1(PIEZO2):c.6648C>T (p.Ser2216=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1095976	NM_001378183.1(PIEZO2):c.6623G>A (p.Arg2208Gln)	PIEZO2 (R2095Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1465020	NM_001378183.1(PIEZO2):c.6622C>T (p.Arg2208Trp)	PIEZO2 (R2208W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033996	NM_001378183.1(PIEZO2):c.6614del (p.Thr2205fs)	PIEZO2 (T2205fs +1 more)	Deletion (frameshift variant)	Gordon syndrome +1 more	GPathogenic
Select item 261523	NM_001378183.1(PIEZO2):c.6600C>T (p.Phe2200=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2183852	NM_001378183.1(PIEZO2):c.6573G>A (p.Ala2191=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715550	NM_001378183.1(PIEZO2):c.6559A>G (p.Ile2187Val)	PIEZO2 (I2099V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261522	NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr)	PIEZO2 (R2064T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2900980	NM_001378183.1(PIEZO2):c.6519C>T (p.Leu2173=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899585	NM_001378183.1(PIEZO2):c.6495G>A (p.Glu2165=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 261521	NM_001378183.1(PIEZO2):c.6488C>A (p.Ala2163Asp)	PIEZO2 (A2050D +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +2 more	GBenign
Select item 436313	NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln)	PIEZO2 (E2046Q +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 2906032	NM_001378183.1(PIEZO2):c.6355A>G (p.Ile2119Val)	PIEZO2 (I2119V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820474	NM_001378183.1(PIEZO2):c.6333T>C (p.Asp2111=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708979	NM_001378183.1(PIEZO2):c.6324G>A (p.Val2108=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758652	NM_001378183.1(PIEZO2):c.6300T>C (p.Phe2100=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741005	NM_001378183.1(PIEZO2):c.6294G>C (p.Gly2098=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739383	NM_001378183.1(PIEZO2):c.6259-4G>A	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922324	NM_001378183.1(PIEZO2):c.6258+13G>A	PIEZO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898847	NM_001378183.1(PIEZO2):c.6247G>A (p.Val2083Ile)	PIEZO2 (V1995I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1610260	NM_001378183.1(PIEZO2):c.6246C>T (p.Ile2082=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515691	NM_001378183.1(PIEZO2):c.6240G>A (p.Met2080Ile)	PIEZO2 (M2080I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547940	NM_001378183.1(PIEZO2):c.6223C>T (p.Arg2075Cys)	PIEZO2 (R1962C +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +2 more	GConflicting classifications of pathogenicity
Select item 735064	NM_001378183.1(PIEZO2):c.6207C>T (p.Ser2069=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783798	NM_001378183.1(PIEZO2):c.6202T>C (p.Leu2068=)	PIEZO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 436312	NM_001378183.1(PIEZO2):c.6202T>A (p.Leu2068Met)	PIEZO2 (L1955M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1932223	NM_001378183.1(PIEZO2):c.6197C>T (p.Ala2066Val)	PIEZO2 (A2066V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987266	NM_001378183.1(PIEZO2):c.6165G>A (p.Thr2055=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 638514	NM_001378183.1(PIEZO2):c.6164C>T (p.Thr2055Met)	PIEZO2 (T1942M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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